ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.10018G>A (p.Val3340Met)

dbSNP: rs1600892115
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Cirak Lab, University Hospital Cologne RCV000855480 SCV000996610 likely pathogenic Fetal akinesia deformation sequence 1; Arthrogryposis multiplex congenita 2019-06-28 criteria provided, single submitter research

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